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Ehmt1 euchromatic histone lysine methyltransferase 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 362078, updated on 13-Apr-2024

Summary

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Symbol
Ehmt1provided by RGD
Full Name
euchromatic histone lysine methyltransferase 1provided by RGD
Primary source
RGD:1307588
See related
Ensembl:ENSRNOG00000007242 AllianceGenome:RGD:1307588
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable several functions, including C2H2 zinc finger domain binding activity; histone-lysine N-methyltransferase activity; and p53 binding activity. Involved in response to fungicide. Predicted to be located in nuclear body. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Thymus (RPKM 140.5), Adrenal (RPKM 113.7) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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Location:
3p13
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (27978888..28127178, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (7580680..7729046, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (1966974..2123858, complement)

Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120101504 Neighboring gene calcium voltage-gated channel subunit alpha1 B Neighboring gene uncharacterized LOC134486057 Neighboring gene arrestin domain containing 1 Neighboring gene zinc finger, MYND-type containing 19

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. Verhoeven WM, et al. Am J Med Genet A, 2011 Oct. PMID 21910222
  2. Epigenetic regulation by G9a/GLP complex ameliorates amyloid-beta 1-42 induced deficits in long-term plasticity and synaptic tagging/capture in hippocampal pyramidal neurons. Sharma M, et al. Aging Cell, 2017 Oct. PMID 28665013, Free PMC Article
  3. Analysis of EHMT1 expression and its correlations with clinical significance in esophageal squamous cell cancer. Guan X, et al. Mol Clin Oncol, 2014 Jan. PMID 24649311, Free PMC Article
  4. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. Nillesen WM, et al. Hum Mutat, 2011 Jul. PMID 21538692
  5. Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice. Balemans MC, et al. Behav Brain Res, 2010 Mar 17. PMID 19896504

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. eIF4A3-mediated circEHMT1 regulation in retinal microvascular endothelial dysfunction in diabetic retinopathy.
    Title: eIF4A3-mediated circEHMT1 regulation in retinal microvascular endothelial dysfunction in diabetic retinopathy.
  2. Epigenetic regulation by G9a/GLP complex ameliorates amyloid-beta induced deficits in long-term plasticity and synaptic tagging/capture in hippocampal pyramidal neurons.
    Title: Epigenetic regulation by G9a/GLP complex ameliorates amyloid-beta 1-42 induced deficits in long-term plasticity and synaptic tagging/capture in hippocampal pyramidal neurons.
  3. miR-217-mediated, genetic, or pharmacological inactivation of EHMT1/2 was sufficient to promote pathological hypertrophy
    Title: The H3K9 dimethyltransferases EHMT1/2 protect against pathological cardiac hypertrophy.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables C2H2 zinc finger domain binding ISO
Inferred from Sequence Orthology
more info
  
enables histone H3K27 methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables histone H3K9 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone H3K9 methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables p53 binding ISO
Inferred from Sequence Orthology
more info
  
enables protein-lysine N-methyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables transcription corepressor binding ISO
Inferred from Sequence Orthology
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in DNA methylation-dependent heterochromatin formation ISO
Inferred from Sequence Orthology
more info
  
involved_in chromatin organization ISO
Inferred from Sequence Orthology
more info
  
involved_in facultative heterochromatin formation ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in peptidyl-lysine dimethylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of cold-induced thermogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in regulation of embryonic development ISO
Inferred from Sequence Orthology
more info
  
involved_in response to fungicide IEP
Inferred from Expression Pattern
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear body IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
histone-lysine N-methyltransferase EHMT1
Names
euchromatic histone methyltransferase 1
euchromatic histone-lysine N-methyltransferase 1
histone-lysine N-methyltransferase EHMT1-like
histone-lysine N-methyltransferase, H3 lysine-9 specific 5
NP_001402796.1
NP_001402797.1
XP_006233681.2
XP_017447361.1
XP_017447362.1
XP_038961271.1
XP_038961272.1
XP_063140123.1
XP_063140124.1
XP_063140125.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001415867.1 → NP_001402796.1  histone-lysine N-methyltransferase EHMT1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    Related
    ENSRNOP00000063511.4, ENSRNOT00000066777.4

  2. NM_001415868.1 → NP_001402797.1  histone-lysine N-methyltransferase EHMT1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086021.1 Reference GRCr8

    Range
    27978888..28127178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017591873.3 → XP_017447362.1  histone-lysine N-methyltransferase EHMT1 isoform X6

    UniProtKB/TrEMBL
    D4A005

  2. XM_063284055.1 → XP_063140125.1  histone-lysine N-methyltransferase EHMT1 isoform X4

  3. XM_017591872.3 → XP_017447361.1  histone-lysine N-methyltransferase EHMT1 isoform X5

    UniProtKB/TrEMBL
    D4A005

  4. XM_063284054.1 → XP_063140124.1  histone-lysine N-methyltransferase EHMT1 isoform X3

  5. XM_063284053.1 → XP_063140123.1  histone-lysine N-methyltransferase EHMT1 isoform X2

    UniProtKB/TrEMBL
    A0A0G2K889

  6. XM_006233619.5 → XP_006233681.2  histone-lysine N-methyltransferase EHMT1 isoform X1

    UniProtKB/TrEMBL
    D4A005
    Related
    ENSRNOP00000074513.2
    Conserved Domains (6) summary
    smart00248
    Location:785 → 811
    ANK; ankyrin repeats
    smart00317
    Location:1137 → 1259
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    cd00204
    Location:811 → 937
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam05033
    Location:1025 → 1129
    Pre-SET; Pre-SET motif
    pfam12796
    Location:821 → 914
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:816 → 847
    ANK; ANK repeat [structural motif]

  7. XM_039105344.2 → XP_038961272.1  histone-lysine N-methyltransferase EHMT1 isoform X8

    Conserved Domains (4) summary
    sd00045
    Location:539 → 570
    ANK; ANK repeat [structural motif]
    cd10535
    Location:770 → 1000
    SET_EHMT1; SET domain (including pre-SET and post-SET domains) found in euchromatic histone-lysine N-methyltransferase 1 (EHMT1) and similar proteins
    pfam12796
    Location:544 → 637
    Ank_2; Ankyrin repeats (3 copies)
    cd20905
    Location:250 → 380
    EHMT_ZBD; Zinc-binding domain of euchromatic histone lysine methyltransferases EHMT1 and EHTM2

  8. XM_039105343.2 → XP_038961271.1  histone-lysine N-methyltransferase EHMT1 isoform X7

    UniProtKB/TrEMBL
    D4A005
    Conserved Domains (4) summary
    sd00045
    Location:782 → 813
    ANK; ANK repeat [structural motif]
    cd10535
    Location:1013 → 1243
    SET_EHMT1; SET domain (including pre-SET and post-SET domains) found in euchromatic histone-lysine N-methyltransferase 1 (EHMT1) and similar proteins
    pfam12796
    Location:787 → 880
    Ank_2; Ankyrin repeats (3 copies)
    cd20905
    Location:493 → 623
    EHMT_ZBD; Zinc-binding domain of euchromatic histone lysine methyltransferases EHMT1 and EHTM2

RNA

  1. XR_010064648.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001108572.1: Suppressed sequence

    Description
    NM_001108572.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version

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